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Genetic testing confirmed a pathogenic variant of poLR3B. POLR3-related-leukodystrophies should be considered in patients who present with hypotonia, ataxia, and hypodontia. There are many different subtypes of POLR-related leukodystrophies each with distinguishing phenotypic and radiographic features. Although MRI can be helpful in initial evaluation, genetic testing is needed for confirmatory diagnosis and to guide prognosis. |
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